Incidental Mutation 'IGL02468:Pbx3'
| ID |
294624 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pbx3
|
| Ensembl Gene |
ENSMUSG00000038718 |
| Gene Name |
pre B cell leukemia homeobox 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
34061469-34262375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34114589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 57
(L57H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040638]
[ENSMUST00000113132]
[ENSMUST00000127353]
[ENSMUST00000138021]
[ENSMUST00000141653]
[ENSMUST00000143776]
[ENSMUST00000153278]
|
| AlphaFold |
O35317 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040638
AA Change: L115H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: L115H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
43 |
234 |
2.7e-97 |
PFAM |
|
HOX
|
235 |
300 |
1.74e-17 |
SMART |
|
low complexity region
|
308 |
341 |
N/A |
INTRINSIC |
|
Blast:HOX
|
342 |
385 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113132
AA Change: L115H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
AA Change: L115H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
234 |
8.5e-103 |
PFAM |
|
HOX
|
235 |
300 |
8.8e-20 |
SMART |
|
low complexity region
|
308 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127353
AA Change: L40H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114695
Gene: ENSMUSG00000038718
AA Change: L40H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
54 |
2e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138021
AA Change: L57H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135226
Gene: ENSMUSG00000038718
AA Change: L57H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
3 |
128 |
3.7e-60 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141653
AA Change: L40H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115710
Gene: ENSMUSG00000038718
AA Change: L40H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
96 |
6.7e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143776
|
| SMART Domains |
Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
93 |
4.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153278
|
| SMART Domains |
Protein: ENSMUSP00000123567
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
93 |
4.9e-26 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175855
AA Change: L31H
|
| SMART Domains |
Protein: ENSMUSP00000135838
Gene: ENSMUSG00000038718
AA Change: L31H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
53 |
1.6e-27 |
PFAM |
|
HOX
|
54 |
119 |
8.8e-20 |
SMART |
|
low complexity region
|
127 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176213
|
| SMART Domains |
Protein: ENSMUSP00000135702
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
2 |
145 |
3.2e-76 |
PFAM |
|
HOX
|
146 |
211 |
1.74e-17 |
SMART |
|
low complexity region
|
219 |
247 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display neonatal lethality with hypoventilation and respiratory failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,596,116 (GRCm39) |
D73E |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,688 (GRCm39) |
Y2525C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep89 |
T |
G |
7: 35,102,577 (GRCm39) |
S97A |
probably benign |
Het |
| Clec16a |
T |
A |
16: 10,559,742 (GRCm39) |
I1005N |
probably benign |
Het |
| Cog5 |
T |
C |
12: 31,887,357 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,809,898 (GRCm39) |
S1217P |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,024,025 (GRCm39) |
M265K |
probably benign |
Het |
| Ddx60 |
T |
G |
8: 62,411,676 (GRCm39) |
S509R |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,195 (GRCm39) |
S3616P |
probably benign |
Het |
| Galnt9 |
T |
C |
5: 110,762,089 (GRCm39) |
F409S |
possibly damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,828 (GRCm39) |
V268A |
probably benign |
Het |
| Ifi47 |
T |
A |
11: 48,986,810 (GRCm39) |
S192R |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,034,114 (GRCm39) |
Y596H |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,364,348 (GRCm39) |
C1096R |
probably damaging |
Het |
| Marchf1 |
A |
G |
8: 66,871,563 (GRCm39) |
Q109R |
probably damaging |
Het |
| Or2y1d |
A |
T |
11: 49,321,941 (GRCm39) |
I213F |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,574 (GRCm39) |
L201P |
probably damaging |
Het |
| Or7g32 |
G |
T |
9: 19,408,473 (GRCm39) |
C143F |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,909,574 (GRCm39) |
V500D |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,231 (GRCm39) |
V394A |
probably benign |
Het |
| Pogz |
A |
G |
3: 94,786,394 (GRCm39) |
N994S |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,187,040 (GRCm39) |
M406L |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,387 (GRCm39) |
S323G |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,121,504 (GRCm39) |
T854A |
probably benign |
Het |
| Puf60 |
A |
C |
15: 75,947,685 (GRCm39) |
|
probably benign |
Het |
| Six2 |
C |
T |
17: 85,992,931 (GRCm39) |
E191K |
possibly damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,497,753 (GRCm39) |
F40L |
probably benign |
Het |
| Tektip1 |
G |
T |
10: 81,201,563 (GRCm39) |
L20I |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,318,170 (GRCm39) |
V1600A |
probably damaging |
Het |
| Tm4sf19 |
C |
A |
16: 32,226,533 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
G |
6: 125,334,824 (GRCm39) |
T33A |
probably benign |
Het |
| Troap |
A |
T |
15: 98,973,242 (GRCm39) |
T3S |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,688,389 (GRCm39) |
I3074L |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
|
| Other mutations in Pbx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02524:Pbx3
|
APN |
2 |
34,260,830 (GRCm39) |
splice site |
probably benign |
|
|
PIT4812001:Pbx3
|
UTSW |
2 |
34,114,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0302:Pbx3
|
UTSW |
2 |
34,114,572 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1526:Pbx3
|
UTSW |
2 |
34,261,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Pbx3
|
UTSW |
2 |
34,094,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Pbx3
|
UTSW |
2 |
34,065,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1652:Pbx3
|
UTSW |
2 |
34,114,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Pbx3
|
UTSW |
2 |
34,114,464 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1850:Pbx3
|
UTSW |
2 |
34,066,832 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2908:Pbx3
|
UTSW |
2 |
34,062,933 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4073:Pbx3
|
UTSW |
2 |
34,114,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:Pbx3
|
UTSW |
2 |
34,178,793 (GRCm39) |
intron |
probably benign |
|
|
R5897:Pbx3
|
UTSW |
2 |
34,261,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7376:Pbx3
|
UTSW |
2 |
34,094,889 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7504:Pbx3
|
UTSW |
2 |
34,065,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7812:Pbx3
|
UTSW |
2 |
34,114,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Pbx3
|
UTSW |
2 |
34,068,240 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9104:Pbx3
|
UTSW |
2 |
34,114,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9114:Pbx3
|
UTSW |
2 |
34,103,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Pbx3
|
UTSW |
2 |
34,260,938 (GRCm39) |
unclassified |
probably benign |
|
|
R9336:Pbx3
|
UTSW |
2 |
34,261,832 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9420:Pbx3
|
UTSW |
2 |
34,103,348 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9445:Pbx3
|
UTSW |
2 |
34,114,555 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation